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Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum
Cristina Fortuno, PhD1 D; Bing-Jian Feng, PhD2 D; Courtney Carroll, MSc2 D; Giovanni Innella, MD3 D; Wendy Kohlmann, MSc2 D; Conxi Lázaro, PhD4,5,6 (D); Joan Brunet, MD, PHD4,5,6,7 (D); Lidia Feliubadaló, PhD4,5,6; Silvia Iglesias, MSc4; Mireia Menéndez, PhD4; Alex Teulé, MD4,5; Mandy L. Ballinger, PhD8,9 [D; David M. Thomas, MD, PhD9,10 (D); Ainsley Campbell, MD11 (D); Mike Field, MD12 [D; Marion Harris, MD13; Judy Kirk, MD14; Nicholas Pachter, MD15 (D); Nicola Poplawski, MD16,17 (D); Rachel Susman, MD18 D; Kathy Tucker, MD19,20 [D; Mathew Wallis, MD21,22 [D; Rachel Williams, BSc20,23 (D; Elisa Cops, BSc24; David Goldgar, PhD2 D; kConFab Investigators25,26; Paul A. James, MD, PHD24,26 (D and Amanda B. Spurdle, PhD1 OD ;
DOI https://doi.org/10.1200/PO.23.00453
ABSTRACT
PURPOSE Establishing accurate age-related penetrance figures for the broad range of cancer types that occur in individuals harboring a pathogenic germline variant in the TP53 gene is essential to determine the most effective clinical man- agement strategies. These figures also permit optimal use of cosegregation data for classification of TP53 variants of unknown significance. Penetrance esti- mation can easily be affected by bias from ascertainment criteria, an issue not commonly addressed by previous studies.
ACCOMPANYING CONTENT
Appendix Data Supplement
Accepted December 21, 2023 Published February 27, 2024
JCO Precis Oncol 8:e2300453 @ 2024 by American Society of Clinical Oncology
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MATERIALS AND METHODS
We performed a maximum likelihood penetrance estimation using full pedigree data from a multicenter study of 146 TP53-positive families, incorporating adjustment for the effect of ascertainment and population-specific background cancer risks. The analysis included pedigrees from Australia, Spain, and Uni- ted States, with phenotypic information for 4,028 individuals.
RESULTS
Core Li-Fraumeni syndrome (LFS) cancers (breast cancer, adrenocortical carcinoma, brain cancer, osteosarcoma, and soft tissue sarcoma) had the highest hazard ratios of all cancers analyzed in this study. The analysis also detected a significantly increased lifetime risk for a range of cancers not pre- viously formally associated with TP53 pathogenic variant status, including colorectal, gastric, lung, pancreatic, and ovarian cancers. The cumulative risk of any cancer type by age 50 years was 92.4% (95% CI, 82.2 to 98.3) for females and 59.7% (95% CI, 39.9 to 81.3) for males. Females had a 63.3% (95% CI, 35.6 to 90.1) cumulative risk of developing breast cancer by age 50 years.
CONCLUSION
The results from maximum likelihood analysis confirm the known high lifetime risk for the core LFS-associated cancer types providing new risk estimates and indicate significantly increased lifetime risks for several additional cancer types. Accurate cancer risk estimates will help refine clinical recommendations for TP53 pathogenic variant carriers and improve TP53 variant classification.
INTRODUCTION
Li-Fraumeni syndrome (LFS) is a hereditary cancer disorder caused by germline pathogenic variants in the TP53 gene, which predispose individuals to a wide range of cancers. Most of these cancers are rare and have an earlier age of onset than in the general population. The most characteristic cancers are female breast cancer, osteosarcoma, soft tissue sarcoma, brain tumors, and adrenocortical carcinoma,
termed the core LFS cancers.1,2 Although TP53 genetic testing was previously recommended only for individuals meeting certain clinical criteria, termed the classic LFS or Chompret 2015 criteria,3,4 the identification of TP53 carriers in multi- gene panel testing has demonstrated that LFS has a broader cancer spectrum than previously recognized.5 A wider cancer spectrum is also supported by studies of the International Agency for Research on Cancer (IARC) TP53 database6 and the National Cancer Institute,7 which indicate the need to
CONTEXT
Key Objective
To provide more accurate estimates of cancer risks associated with Li-Fraumeni syndrome (LFS), a hereditary cancer disorder caused by TP53 gene pathogenic variants, by using a statistically sophisticated approach that addresses issues around ascertainment bias and the wide range of competing risks.
Knowledge Generated
By conducting a comprehensive analysis of diverse cancer types in TP53 pathogenic variant carriers, the study provides accurate estimates of cancer risks, including beyond the core LFS cancers. This study revealed that individuals with TP53 germline pathogenic variants have a significantly increased risk of developing a broad spectrum of cancers, including colorectal, lung, gastric, leukemia, melanoma, and more, with higher risks in females compared with males.
Relevance
This information is crucial for improving clinical management strategies, which may include personalized surveillance and screening approaches for TP53 pathogenic variant carriers to detect and manage cancer at an earlier stage.
better understand the LFS cancer spectrum. To provide ef- fective clinical management, it is important to identify which cancers have a significantly increased risk associated with TP53 germline pathogenic variants (relative to pop- ulation risk), as well as calculating the lifetime personal risk for each cancer. Accurate penetrance estimates are also required as a defined parameter for Bayesian segregation analysis methods that have been shown to outperform meiosis counting in the assessment of the causality of variants of uncertain clinical significance.8
A number of primarily observational studies report an in- creased risk of noncore cancer types in LFS families, in- cluding melanoma, lung cancer, GI cancers, thyroid cancer, prostate cancer, ovarian cancer, leukemias, and lymphomas, among others.4,9-17 As some of these cancers are relatively common in the general population, the studies to date have not been able to provide conclusive evidence to determine if these are causally linked to germline TP53 variants. Even for the core LFS cancers, with a firmly established association with TP53 pathogenic variant status, the specific age-related risk for these has not been clearly established or validated across different cohorts.
Six previous studies have estimated the TP53-associated penetrance for specific cancer types using a range of dif- ferent methods, selection criteria, and number of pedigrees (summarized in Table 1).10,18-21 Of these six studies, three investigated risk in seven or fewer families, with only one using a segregation-based method. For all studies, sample size and methods used restricted penetrance estimation to only a subset of cancer types. Furthermore, most of these studies analyzed TP53 families that were highly selected on the basis of existing testing criteria. It is likely that the results from analysis of families recruited based only on the proband’s diagnosis (ie, not considering the cancer family history) are less susceptible to ascertainment bias. However,
there is known to be variation in the disease risk and cancer spectrum associated with individual TP53 variants, and even the details of the proband’s diagnosis could introduce an element of selection bias. To minimize these concerns, it is important to conduct penetrance estimations from a large number of pedigrees using information from as many family members as possible, addressing issues around ascertain- ment bias through the use of pedigree data that are able to take the context of the family history into account. The segregation-based maximum likelihood method represents a powerful way to address these issues by conditioning the analysis on the family component that led to the ascer- tainment and providing the ability to consider the whole pedigree structure and population background incidence. The strength of this approach has been demonstrated by international collaborations that have successfully analyzed the cancer risks associated with pathogenic variants in several cancer genes, including PALB2 (524 pedigrees), RAD51C (125 pedigrees) and RAD51D (60 pedigrees), POLE and POLD (50 pedigrees), and BRCA1 (906 pedigrees) and BRCA2 (367 pedigrees),2-25 as well as a recent population-based breast cancer study of 17,425 families.26
In this study, we applied the maximum likelihood approach to the analysis of pedigree data from families with a known TP53 pathogenic variant from three countries. The study aimed to refine the list of cancers known to have a signif- icantly increased risk in individuals harboring a TP53 pathogenic germline variant and provide improved esti- mates of the cumulative cancer risk by age.
MATERIALS AND METHODS
Data Sets
A total of 146 unique informative pedigrees (4,028 indi- viduals) from five different sites in three countries were used
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| Study | No. of TP53-Positive Pedigrees | Selection criteria | Methods | Reported Findingsª |
|---|---|---|---|---|
| Hwang et al,18 2003 | 7 | Cancer history consistent with the classic LFS criteria | Kaplan-Meier analysis | Cumulative cancer risk by ages 20, 30, 40, and 50 years of 18%, 40%, 77%, and 93%, respectively, in females and 10%, 21%, 33%, and 68%, respectively, in males |
| Wu et al,19 2006 | 7 | Childhood soft tissue sarcoma | Segregation-based | Cumulative cancer risk by ages 20, 40, and 60 years of 96%, 100%, and 100%, respectively, in females and 40%, 86%, and 98%, respectively, in males |
| Mai et al,10 2017 | 107 | NCI LFS study-meeting clinical criteria for classic LFS or Li-Fraumeni-like syndrome, as well as those with choroid plexus carcinoma, adrenocortical carcinoma, or ≥3 cancers, as well as those identified to carry a germline TP53 variant | Kaplan-Meier analysis | Cumulative cancer incidence by age 31 years of 50% for females and 46 years for males, and almost 100% by age 70 years for both sexes |
| Fan et al,20 2021 | 5 | Participants unselected for personal or family history of breast cancer | Kaplan-Meier analysis | Breast cancer risk of 25% by age 40 years and 44% by age 50 years |
| de Andrade et al,7 2022 | 143 (includes families analyzed by Mai et al,10 2017) | NCI LFS study-meeting clinical criteria for classic LFS or Li-Fraumeni-like syndrome, as well as those with choroid plexus carcinoma, adrenocortical carcinoma, or ≥3 cancers, as well as those identified to carry a germline TP53 variant | Observational study using family-clustered Cox regression models and competing risk methods | Breast cancer risk by age 60 years of 56%. LFS individuals had 24 times higher incidence of any cancer compared with the general population |
| Evans et al,21 2023 | 17 total: 6 (c.455C>T [p.Pro152Leu]), and 11 (codon 245/248) | Families from research studies tested for very early onset breast cancer and LFS Chompret criteria | Kaplan-Meier analysis | Families with c.455C>T (p.Pro152Leu) had a lower risk of nonadrenal cancers and no increased risk of breast cancer. Families with codon 245/248 variants had a 100% risk of breast cancer by age 36 years and 100% risk of all cancers before age 60 years |
Abbreviation: LFS, Li-Fraumeni syndrome. ªSee publication for cancer-specific figures.
for cancer risk analyses, with a median of 33 individuals per family. Details and selection criteria are described in Table 2. Families were considered informative and therefore included in the analyses, if at least two family members had been genotyped. There were a total of 741 genotyped individuals regardless of the cancer affected status, with a median of four genotyped individuals per family. Where available for any family member, the data collected included date of birth/ death, cancer status, age at diagnosis, TP53 result, date of any prophylactic surgeries, and date of last follow-up. The analysis included families with a variant reported as pathogenic or likely pathogenic (P/LP) by local diagnostic
laboratories, which were then checked against ClinVar or TP53 quantitative models.27,28 Families segregating the reduced- penetrance Brazilian founder variant NM_000546.6(TP53): c.1010G>A (p.R337H), which is classified as P/LP in ClinVar, were not included. The list of unique variants included along with ClinVar and quantitative model data is provided in the Data Supplement (Table S1), as well as the number of in- formative pedigrees with each variant.
This study has been approved by the QIMR Berghofer MRI Human Research Ethics Committee (P1051). This study received the IDIBELL institutional review board (IRB)
| Country | Site | Families | Individuals | Selection Criteria |
|---|---|---|---|---|
| Australia | ISKS | 7 | 277 | Personal or family history of sarcoma |
| Australia | kConFab | 12 | 468 | Personal or family history of breast-ovarian cancer |
| Australia | ICCon | 50 | 1,545 | Personal or family history of cancer indicating hereditary disease |
| Spain | Catalan Institute of Oncology | 13 | 375 | |
| US (Utah) | University of Utah | 64 | 1,363 | |
Abbreviations: ICCon, Inherited Cancer Connect; ISKS, International Sarcoma Kindred Study.
approval PR025/10. This study has been approved by the University of Utah IRB (IRB_00046740). Consent for re- search had previously been obtained for individuals pre- viously recruited into research cohorts, and requirement for consent was waived by the IRB for sharing of deiden- tified data for the remainder of individuals in cohorts ascertained clinically.
Statistical Analyses
Pedigree Data
Pedigree data were collected, cleaned, and exported in an analyzable format, using Progeny software (version 10.6.2.0). Families from the three Australian sites identified to overlap were merged into a single pedigree for analyses. Individuals were censored as affected at the age of first cancer diagnosis, or, if unaffected, at the earliest of age at risk-reducing surgery, death, or last follow-up. Family members with missing ages of cancer diagnosis were not considered in the analyses, unless information was available on age of death or last follow-up, which was used conser- vatively as an age of diagnosis in 43 individuals (median age, 44 years). Individuals with nonmelanoma skin cancers (C44) and benign tumors were considered as unaffected for all analyses, but were censored at the age of these diagnoses if no other relevant cancer or later follow-up age information. Where an individual had a TP53 pathogenic variant con- firmed to be de novo by genotyping or mosaicism, their ancestors were excluded from the analyses. This was the case for 10 (13%) of all 146 families, a figure compatible with the reported frequency of TP53 de novo events between 7% and 20%.29 The pedpro program available on the COOL website (COOL, Co-segregation Online)8 was used to correct for family structure errors.
Cancer Population Incidence
Data on population cancer incidence were retrieved from the IARC website31 for the population most relevant to our data sets (Australia 2003-2007, Spain-Girona 2003-2007, United States Utah 2003-2007) and combined proportionally to the number of observed cases and person-years at risk. International Classification of Diseases code definitions for each of the cancers analyzed are specified in the Data Supplement (Table S2).
Hazard Ratio and Cumulative Cancer Risk Calculations
Hazard ratios (HRs) associated with each cancer were calculated as the ratio of developing a given cancer type as a first cancer among TP53 P/LP carriers in comparison with the general population. The HR was calculated indepen- dently for the following malignancies and groupings: all cancer types in the data set, all core LFS cancers (except breast cancer), adrenocortical carcinoma, breast cancer, brain cancers, osteosarcoma, soft tissue sarcoma, osteo- sarcoma + soft tissue sarcoma including unspecified
sarcomas, colorectal cancer, gastric cancer, leukemia, lung cancer, melanoma, non-Hodgkin lymphoma, pancreatic cancer, renal cancer, cervical cancer, ovarian cancer, and prostate cancer. For other cancers such as endometrial cancer, head and neck cancer, liver cancer, and thyroid cancer, there were no known carriers except for a single individual with thyroid cancer. The HR could therefore not be calculated for these cancers, given their rarity in our data sets and/or absence of sufficient genotyped affected indi- viduals. To calculate the HRs, we used a maximum likeli- hood analysis method,22 which is implemented in a modified version of the software MENDEL.32 This method considers the whole pedigree structure and assigns a probability of being a carrier to each individual on the basis of the known genotype information within the pedigree, in an iterative process that continues until the genotype probability estimates are found that result in the best fit to the observed phenotype and genotype data. The effect of ascertainment bias was controlled for by conditioning on the likelihood of data on the basis of the proband’s ge- notype and all family members’ phenotypes. HRs were calculated using a constant model for each malignancy, in addition to age-dependent continuous models for those with the highest number of affected/genotyped individuals. To fit age-dependent models, three age groups were assigned on the basis of existing clinical criteria33 as well as commonly investigated age groups for specific cancers, with the middle group calculated by interpolation. Separate models were fitted for all cancer types, ≤18 years versus >45 years; core LFS cancers, ≤18 years versus >45 years; breast cancer, ≤30 years versus >50 years; brain cancer, ≤45 years versus >45 years; and prostate cancer, ≤60 years versus >60 years. Significant HRs were converted to cumulative cancer risks by age using population background cancer incidence at 5-year age groups from 0 to 75 (considered lifetime) for core LFS cancers and for all cancer types combined. Cu- mulative cancer risks by age were calculated for age groups from 0 only up to age 60 years for all other cancers, a conservative approach to account for the lower number of confirmed genotyped individuals in this latter group. A secondary age-dependent analysis was performed for all cancer types and core LFS cancers, using ≤18 years versus >60 years as age groups.
RESULTS
Overview of the Cancer Spectrum
A summary of the spectrum of first cancers according to sex (irrespective of pathogenic variant status as well as in confirmed TP53 carriers) is shown in Table 3. Details of the number of first cancer diagnoses according to age group, sex, and TP53 status is provided in the Data Supplement (Table S2). Of all 4,028 individuals denoted in the pedigrees, 2,014 (50%) were female, 2,014 (50%) were male, and 971 (24%) were affected with at least one cancer; of the cancer-affected individuals, 206 were affected with multiple cancers. In females, core LFS cancers represented 60% of all cancers and
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| Cancer (first) | Females (carriers) | Males (carriers) |
|---|---|---|
| All cancer typesª | 552 (179) | 419 (92) |
| Adrenocortical carcinoma | 10 (8) | 2 (1) |
| Breast cancer | 248 (104) | 4 (0) |
| Brain cancer | 35 (11) | 60 (19) |
| Osteosarcoma | 22 (8) | 21 (10) |
| Soft tissue sarcoma | 16 (9) | 27 (19) |
| Unspecified sarcoma | 16 (5) | 9 (2) |
| Cervical cancer | 9 (3) | NA |
| Colorectal cancer | 22 (2) | 42 (5) |
| Gastric cancer | 11 (1) | 18 (2) |
| Leukemia | 19 (2) | 19 (4) |
| Lung cancer | 27 (4) | 41 (1) |
| Melanoma | 15 (3) | 17 (5) |
| Non-Hodgkin lymphoma | 7 (0) | 7 (2) |
| Ovarian cancer | 17 (5) | NA |
| Prostate cancer | NA | 54 (11) |
| Pancreatic cancer | 7 (0) | 11 (0) |
| Renal cancer | 4 (1) | 8 (1) |
| Other/Unknown | 67 (13) | 79 (10) |
Abbreviation: NA, not applicable.
ªThis includes all cancers in the data set including classified as other and unknown.
15% without including breast cancer. Breast cancer was the most common cancer in females (45% of all total malig- nancies), followed by brain cancer (6%) and lung cancer (5%). In males, core LFS cancers represented 26% of all cancers. Brain cancer was the most common cancer in males (14%), followed by prostate cancer (13%) and colorectal cancer (10%).
HRs Associated With Each Cancer Type
HR estimates for each cancer type according to sex are shown in Table 4. The combined HR for all cancers was nonsig- nificantly higher in females than in males, both using the constant model (10.6 v 6.7) and at the different age groups analyzed by the age-dependent model. For both sexes, the LFS core cancers had the highest individual HRs. Of note, both females and males continued to have a significant HR of developing all cancer types as well as core LFS cancers after age 45 years, and after age 60 years in the secondary age- dependent model (Data Supplement, Table S3). The core LFS cancer with the highest HR was adrenocortical carcinoma in females (HR, 78.3), with all cases occurring before age 18 years but there were insufficient data in males to calculate a HR for this cancer. The HR associated with breast cancer in females was 10.7; however, the age-dependent model revealed the HR to be highest before age 30 years (HR, 43.6)
and not significant after age 50 years. For males, the HR was significant for all cancers analyzed except melanoma and renal cancer. For females, the HRs for lung cancer, mela- noma, ovarian cancer, and renal cancer were statistically significant.
Cumulative First Cancer Risks for All Cancer Types and LFS Core Cancers
On converting the significant HRs from the analysis to age- specific cumulative cancer risks on the basis of population background incidences, the risk of developing any cancer type in females was 41% by age 30 years and 98% by age 70 years. In males, this was 19% by age 30 years and 92% by age 70 years (Fig 1, details in the Data Supplement, Tables S4 and S5).
In females, the LFS core cancer with the highest lifetime risk was breast cancer (7% by age 30 years and 71% by age 70 years), followed by brain cancer (9% lifetime risk), soft tissue sarcoma (4%), osteosarcoma (3%), and adrenocor- tical carcinoma (2%). When including unspecified sarcoma subtypes, assumed to be either osteosarcoma or soft tissue sarcoma, the lifetime risk of developing any of these ma- lignancies was 17% (Data Supplement, Table S4). When analyzed together excluding breast cancer, the lifetime risk of developing a first core LFS cancer in females was 30% (Data Supplement, Table S4).
In males, the LFS core cancer with the highest lifetime risk was brain cancer (15%), followed by soft tissue sarcoma (6%) and osteosarcoma (4%), with no data available for adrenocortical carcinoma. When including unspecified sar- coma subtypes, the lifetime risk was 11% (Data Supplement, Table S5). When analyzed together, the lifetime risk of de- veloping a first core LFS cancer was 23% (Data Supplement, Table S5).
Cumulative First Cancer Risks for Cancer Types Outside the LFS Core Spectrum
Age-specific cumulative risks were also calculated for can- cers outside the LFS core spectrum that had a significantly increased HR in the maximum likelihood analysis (Fig 2). In females, the risk of developing a cancer type outside the LFS core spectrum by age 60 years was highest for melanoma (8%), followed by lung cancer (7%), ovarian cancer (6%), and renal cancer (4%). In males, this risk was highest for prostate cancer (22%), followed by colorectal cancer (12%), lung cancer (9%), non-Hodgkin lymphoma (5%), gastric cancer (4%), pancreatic cancer (4%), and leukemia (2%).
DISCUSSION
To our knowledge, this study of 146 families is the first to provide age-specific risks of diverse cancer types in TP53 pathogenic variant carriers using maximum likelihood segregation analysis. Our estimated penetrance figures are
| Cancer (first) | Females | Males | ||||
|---|---|---|---|---|---|---|
| HR | Lower 95% CI | Upper 95% CI | HR | Lower 95% CI | Upper 95% CI | |
| All cancer typesª (constant) | 10.6 | 7.7 | 14.6 | 6.7 | 4.6 | 9.8 |
| All cancer typesa ≤18 years | 41.6 | 26.3 | 65.8 | 17.2 | 9.0 | 32.9 |
| All cancer typesª >45 years | 5.1 | 3.1 | 8.7 | 4.2 | 2.4 | 7.1 |
| Core LFS cancersb (constant) | 9.5 | 5.7 | 16.0 | 20.4 | 9.4 | 44.2 |
| Core LFS cancersb ≤18 years | 40.5 | 19.1 | 85.8 | 24.0 | 8.5 | 67.6 |
| Core LFS cancersb >45 years | 3.3 | 1.1 | 10.1 | 15.3 | 3.3 | 72.2 |
| Adrenocortical carcinoma | 78.3 | 44.2 | 138.9 | No data | ||
| Breast cancer (constant) | 10.7 | 7.1 | 16.1 | No data | ||
| Breast cancer ≤30 years | 43.6 | 18.9 | 100.9 | No data | ||
| Breast cancer >50 years | 2.2 | 0.8 | 6.3 | No data | ||
| Brain cancer (constant) | 42.8 | 15.9 | 114.9 | 15.8 | 5.9 | 41.8 |
| Brain cancer ≤45 years | 55.1 | 19.4 | 156.5 | 16.2 | 5.3 | 49.8 |
| Brain cancer >45 years | No data | 14.4 | 2.0 | 104.8 | ||
| Osteosarcoma | 44.7 | 6.3 | 318.0 | 42.1 | 11.3 | 156.2 |
| Soft tissue sarcoma | 23.7 | 3.8 | 146.6 | 21.3 | 4.8 | 95.4 |
| Osteosarcoma + soft tissue sarcomac | 79.5 | 25.0 | 253.3 | 34.6 | 12.1 | 99.3 |
| Cervical cancer | 4.4 | 0.2 | 95.2 | NA | ||
| Colorectal cancer | 1.5 | 0.3 | 6.3 | 6.0 | 2.1 | 16.6 |
| Gastric cancer | 6.7 | 0.8 | 57.1 | 11.0 | 1.6 | 74.2 |
| Leukemia | 4.0 | 0.8 | 19.4 | 4.0 | 1.0 | 15.4 |
| Lung cancer | 9.1 | 2.3 | 36.0 | 4.8 | 1.5 | 15.6 |
| Melanoma | 5.4 | 1.2 | 23.4 | 2.1 | 0.6 | 7.5 |
| Non-Hodgkin lymphoma | No data | 6.3 | 1.4 | 28.3 | ||
| Ovarian cancer | 11.1 | 2.0 | 60.3 | NA | NA | NA |
| Pancreatic cancer | No data | 12.0 | 1.9 | 74.8 | ||
| Prostate cancer (constant) | NA | 5.6 | 2.3 | 13.4 | ||
| Prostate cancer ≤60 years | NA | 13.8 | 4.6 | 41.3 | ||
| Prostate cancer >60 years | NA | 3.2 | 1.1 | 9.2 | ||
| Renal cancer | 15.4 | 2.1 | 111.8 | 4.0 | 0.6 | 27.0 |
Abbreviations: HR, hazard ratio; LFS, Li-Fraumeni syndrome; NA, not applicable.
ªThis includes all cancers in the data set including others and unknown.
bThis includes adrenocortical carcinoma, brain cancer, osteosarcoma, soft tissue sarcoma, as well as unknown sarcoma subtypes.
“This includes unknown sarcoma subtypes.
somewhat lower at earlier ages than reported for previous studies, likely because of the methodological approach that allows for stringent correction for ascertainment and takes advantage of the whole pedigree structure. Nevertheless, a >90% lifetime risk of developing any cancer was reached earlier in females (50 years) than in males (70 years), reflecting the very high risk of breast cancer for women and reinforcing the extremely high lifetime risk of cancer as- sociated with TP53 pathogenic germline variants. The findings also revealed statistically significant increases in the risk of other cancer types beyond the LFS spectrum, such as colorectal, lung, gastric, pancreatic, and ovarian cancers. This is consistent with previous suggested and/or reported associations,4,9-17 but our results additionally provide estimates of the extent of association with TP53 considering the population background incidence, which
las implications for recommendations on clinical management.
Wu et al19 found females had cumulative cancer risks of 96%, 100%, and 100% at ages 20, 40, and 60years, respectively, while males had risks of 40%, 86%, and 98%. In our study, female risks were 18%, 75%, and 96%, respectively, and 9%, 35%, 80% for males. Other studies reported risks as high as 22% by age 5 years and 41% by age 18 years.4 The analysis by Mai et al10 of 107 families reported a cumulative cancer in- cidence of 50% by age 31 years in females and age 46 years in males, approaching 100% by age 70 years. In our study, female cancer risk by age 30 years was 41% and male risk by age 45 years was 47%. Our cumulative cancer risks for all core LFS cancers are generally lower than those of Mai et al,10 except for female brain cancer.
A
B
Females
Males
100
100
Cumulative Risk (%)
Cumulative Risk (%)
75
75
Cancer
All cancer typesª
Cancer
50
Breast cancerª
50
- All cancer typesª
Brain cancerª
- Brain cancera
Soft tissue sarcoma
Osteosarcoma
Osteosarcoma
Soft tissue sarcoma
Adrenocortical carcinomab
25
Adrenocortical carcinoma
25
0
0
0
20
40
60
0
20
40
60
Age (years)
Age (years)
As expected, the LFS core cancers had the highest HRs in both males and females. However, when the rarity of most of the core cancers in the general population was taken into account, the lifetime absolute risk for these core cancer types occurring as first cancer was eclipsed by the absolute risk of other cancers more common in the population, such as lung or colorectal cancer. Although most previous studies have reported that LFS core cancers are the most common to occur among TP53 carriers, the cancer spectrum of our data and results from maximum likelihood analysis suggest other- wise. For example, in males, the lifetime cumulative risk of developing a core LFS cancer was estimated to be 23% (30% in females when excluding breast cancer), while this was >95% for any cancer type in both sexes, indicating the preponderance of cancer types outside the LFS spectrum. This study provides statistical evidence that an increased risk of a broad range of other cancers is associated with TP53 pathogenic variants, in particular, colorectal cancer, gastric cancer, leukemia, lung cancer, melanoma, non-Hodgkin lymphoma, pancreatic cancer, renal cancer, ovarian can- cer, and prostate cancer. As we lacked data on cancer
verification, there is a potential for some degree of mises- timation in our results for these other cancers. The lack of statistical significance in one sex versus the other for certain cancers that do not show major sex differences in the population most likely reflects limited power because of limited numbers of genotyped affected individuals rather than an actual significant sex difference, as evidenced from the broad CIs around the HRs for non-LFS core cancers. This is especially relevant for females, where approximately 25% were affected with breast cancer as first cancer, limiting power to accurately assess the risk of nonbreast cancer as first cancer diagnosis. Future larger analyses that model these individual cancer types simultaneously with risk of core LFS cancers will be required to more accurately assess the HRs for noncore cancers while adequately conditioning for ascertainment, as has recently been conducted for nonbreast and nonovary cancer types for BRCA1 and BRCA2.25
Our study was restricted to the analysis of first cancers, to avoid the introduction of potential biases because of the incidence of second cancers being influenced by the medical
A
B
Females
Males
12
40
Cumulative Risk (%)
Cumulative Risk (%)
8
30
Cancer
Cancer
Prostate cancerª
Melanoma
Colorectal cancer
Lung cancer
20
Lung cancer
Ovarian cancer
Non-Hodgkin lymphoma
4
Renal cancer
Gastric cancer
Pancreatic cancer Leukemia
10
0
0
0
20
40
60
0
20
40
60
Age (years)
Age (years)
or surgical management of the first cancer or the described effect of radiotherapy on second cancer rates in LFS. It is therefore critical to emphasize that our results represent risks of these cancers occurring as first cancer in the absence of other competing risks. As hypothesized by de Andrade et al, 7 there might be a trigger effect combining biological and/or treatment-related factors affecting individuals with multiple cancers. Future studies that are able to account for these potentially complex relationships would be beneficial to provide reliable estimates for risk of cancers beyond the first cancer.
Our results could also improve TP53 variant classification, for example, calibration of criteria that use proband’s pheno- type as evidence for/against pathogenicity and improved cosegregation modeling via the online segregation tool COOL,8 which currently relies on results from seven TP53- positive families.
In conclusion, this analysis of 146 families harboring pathogenic variants in TP53 from three countries has demonstrated the value of using maximum likelihood analysis to calculate accurate cancer risk estimates associ- ated with TP53 pathogenic variants for diverse cancer types.
AFFILIATIONS
1Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
2Huntsman Cancer Institute, University of Utah, Salt Lake City, UT
3Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy
4Hereditary Cancer Program, Catalan Institute of Oncology, L’Hospitalet de Llobregat, Barcelona, Spain
5Hereditary Cancer Program, ONCOBELL, IDIBELL, L’Hospitalet de Llobregat, Barcelona, Spain
6Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Instituto Salud Carlos III, Madrid, Spain
7Precision Oncology in Girona, IDIBGI, Girona, Spain
8St Vincent’s Clinical School, Faculty of Medicine, University of New South Wales, New South Wales, Australia
9Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia
10Centre for Molecular Oncology, Faculty of Medicine, University of New South Wales, New South Wales, Australia
11Department of Clinical Genetics, Austin Health, Melbourne, Victoria, Australia
12Familial Cancer Service, Royal North Shore Hospital, St Leonards, New South Wales, Australia
13Monash Health Familial Cancer Service, Melbourne, Victoria, Australia
14Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Westmead, New South Wales, Australia
15Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia
16Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia
17 Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia
18Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Brisbane, Queensland, Australia
This rigorous maximum likelihood method has confirmed the high risk for a wide spectrum of cancer types associated with TP53 pathogenic variant status, supporting the use of broad surveillance strategies including dedicated brain and whole-body magnetic resonance imaging.34-37 The findings emphasize the critical role of dedicated breast screening for women from a young age. They also raise the question of whether more consideration should be given to offering other targeted risk management such as colonoscopy, prostate cancer screening, and risk-reducing bilateral salpingo-oophorectomy as standard care for TP53 patho- genic variant carriers.16 It should be noted that the UKCGG Consensus Group indicated there was a strong disagreement about colonoscopy, and did not provide any recommenda- tions about prostate or ovarian cancer, in relation to clinical management of TP53 carriers.37 Applying this approach to even larger data sets modeling multiple cancer types si- multaneously would be valuable to better assess the lifetime risk of cancer types outside the LFS spectrum. Further personalization of clinical management may also be possible if larger data sets were available to allow investigation of variation in cancer risk by more age groupings, variant location/effect, and for so-called reduced-penetrance TP53 variants.
19Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, New South Wales, Australia
20Prince of Wales Clinical School, UNSW Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia
21 Tasmanian Clinical Genetics Service, Tasmanian Health Service, Royal Hobart Hospital, Hobart, Tasmania, Australia
22School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia
23Prince of Wales Hereditary Cancer Centre, Prince of Wales Hospital, Randwick, New South Wales, Australia
24 Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, Victoria, Australia
25kConFab, Research Department, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia
26Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia
CORRESPONDING AUTHOR
Paul A. James, MD, PhD; e-mail: paul.james@petermac.org.
EQUAL CONTRIBUTION
C.F., B .- J.F., P.A.J., and A.B.S. contributed equally to this work.
PRIOR PRESENTATION
Presented in part at the American Society of Human Genetics meeting, Los Angeles, CA, October 25-29, 2022.
SUPPORT
Supported in part by NHMRC which provided support in the form of salaries for authors A.B.S. (APP177524) and C.F. (APP1161589). The work of C.F. was additionally supported by a grant from the National Breast Cancer Foundation, Australia (IIRS-21-102). The team from
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Downloaded from ascopubs.org by National Library of Medicine - US on April 4, 2026 from 130.014.025.182 Copyright @ 2026 American Society of Clinical Oncology. All rights reserved.
Catalan Institute of Oncology was supported by Carlos III National Institute of Health (Spain) funded by 19 FEDER funds-a way to build Europe-[PI19/00553; PI23/00017 and CIBERONC], Government of Catalonia: Pla estratégico de recerca i innovació en salut (PERIS); Grup Consolidat Recerca (2021SGR01112) and CERCA Program. The Inherited Cancer Connect (ICCon) Partnership was funded by the Cancer Council New South Wales Strategic Research Partnership (STREP) scheme (SRP13-02). The team from the Huntsman Cancer, University of Utah utilized the Genetic Counseling Shared Resources which are supported by National Cancer Institute award number P30CA042014.
AUTHOR CONTRIBUTIONS
Conception and design: Cristina Fortuno, Bing-Jian Feng, David Goldgar, Paul A. James, Amanda B. Spurdle
Financial support: Amanda B. Spurdle
Administrative support: Elisa Cops, Amanda B. Spurdle
Provision of study materials or patients: Wendy Kohlmann, Conxi Lázaro, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, David M. Thomas, Ainsley Campbell, Judy Kirk, Nicola Poplawski, Rachel Susman, Kathy Tucker, Rachel Williams, Elisa Cops, Paul A. James Collection and assembly of data: Bing-Jian Feng, Giovanni Innella, Wendy Kohlmann, Conxi Lázaro, Joan Brunet, Lidia Feliubadaló, Silvia Iglesias, Mireia Menéndez, Alex Teulé, Mandy L. Ballinger, David M. Thomas, Ainsley Campbell, Mike Field, Judy Kirk, Nicholas Pachter, Rachel Susman, Kathy Tucker, Mathew Wallis, Rachel Williams, Elisa Cops, Paul A. James, Amanda B. Spurdle
Data analysis and interpretation: Cristina Fortuno, Bing-Jian Feng, Courtney Carroll, Giovanni Innella, Conxi Lázaro, Alex Teulé, Marion Harris, Judy Kirk, Nicola Poplawski, David Goldgar, Paul A. James, Amanda B. Spurdle
Manuscript writing: All authors
Final approval of manuscript: All authors
Accountable for all aspects of the work: All authors
AUTHORS’ DISCLOSURES OF POTENTIAL CONFLICTS OF INTEREST
The following represents disclosure information provided by authors of this manuscript. All relationships are considered compensated unless otherwise noted. Relationships are self-held unless noted.
I = Immediate Family Member, Inst = My Institution. Relationships may not relate to the subject matter of this manuscript. For more information about ASCO’s conflict of interest policy, please refer to www.asco.org/ rwc or ascopubs.org/po/author-center.
Open Payments is a public database containing information reported by companies about payments made to US-licensed physicians (Open Payments).
Bing-Jian Feng Honoraria: OncLive (Intellisphere LLC)
Research Funding: Pfizer (Inst), Pfizer (Inst), Regeneron (Inst), Pfizer (Inst) Patents, Royalties, Other Intellectual Property: The PERCH software, for which I am the inventor, has been nonexclusively licensed to Ambry Genetics for their clinical genetic testing service and research
Courtney Carroll Research Funding: Pfizer (Inst)
Wendy Kohlmann
This author is a member of the JCO Precision Oncology Editorial Board. Journal policy recused the author from having any role in the peer review of this manuscript.
Employment: BioFire Diagnostics
Conxi Lázaro Honoraria: AstraZeneca Spain, SOPHIA Genetics
Joan Brunet Consulting or Advisory Role: MSD Oncology, AstraZeneca Spain Travel, Accommodations, Expenses: GlaxoSmithKline
Alex Teulé
Honoraria: Ipsen, Novartis, AAA HealthCare, Esteve Consulting or Advisory Role: AAA HealthCare, Esteve Travel, Accommodations, Expenses: AAA/Endocyte/Novartis
Mandy L. Ballinger Honoraria: Roche
Research Funding: Pfizer, Amgen, AstraZeneca, Elevation Oncology, Roche, Bayer, Microba, Seagen, Sun Pharma, Lilly, George Clincal Travel, Accommodations, Expenses: Amgen
David M. Thomas Employment: Australian Unity, Omico Honoraria: Roche
Research Funding: Pfizer, Amgen, AstraZeneca, Elevation Oncology, Roche, Bayer, Microba (Inst), Seagen (Inst), Sun Pharma (Inst), Lilly (Inst), George Clincal (Inst), InterVenn Biosciences Travel, Accommodations, Expenses: Amgen
Ainsley Campbell Honoraria: AstraZeneca
Mike Field
Honoraria: AstraZeneca, AstraZeneca Speakers’ Bureau: AstraZeneca, AstraZeneca
Kathy Tucker Uncompensated Relationships: AstraZeneca
Rachel Williams Honoraria: AstraZeneca
No other potential conflicts of interest were reported.
ACKNOWLEDGMENT
The ICCon Partnership: the authors thank all Familial Cancer Clinics (FCCs) that contributed data to this study either through submission of data to the ICCon Database, or directly through the ICCon Partnership infrastructure. Specifically, the authors thank the ICCon State Coordinators, and contributing staff members, for collating these data at each FCC. The authors acknowledge Gillian Mitchell for her role in establishing and leading ICCon during the Partnership’s formative years. kConFab: the authors thank Heather Thorne, Eveline Niedermayr, Sharon Guo, all the kConFab research nurses and staff, the heads and staff of the Family Cancer Clinics, and the Clinical Follow Up Study (which has received funding from the NHMRC, the National Breast Cancer Foundation, Cancer Australia, and the National Institute of Health [United States]) for their contributions to this resource, and the many families who contribute to kConFab. kConFab is supported by a grant from the National Breast Cancer Foundation, and previously by the National Health and Medical Research Council (NHMRC), the Queensland Cancer Fund, the Cancer Councils of New South Wales, Victoria, Tasmania, and South Australia, and the Cancer Foundation of Western Australia. The Huntsman Cancer Institute, University of Utah, team wish to thank Luke Maese, Joshua Shiffman, Jennie Vager, and the entire Family Cancer Assessment Clinic team for providing patient care and contributing data to this study. The authors thank Anne Naumer and Journey Bly for database coordination, and Jo Anson for overseeing the Li-Fraumeni syndrome research program. See Appendix Table A1 for the list of kConFab investigators.
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Penetrance of TP53 Cancers Using Maximum Likelihood Analysis
APPENDIX
| Name | Address | Phone | Qualifications | |
|---|---|---|---|---|
| David Amor | Medical Geneticist, Genetic Health Services, Victoria Royal Children's Hospital, Melbourne, VIC 3050 | Ph: 03 8341 1391 | david.amor@mcri.edu.au | MBBS, PhD |
| Lesley Andrews | Hereditary Cancer Clinic, Prince of Wales Hospital Randwick, NSW 2031 | Ph: 02 9382 2590 | lesley@radonc.sesahs.nsw. gov.au | MBBS |
| Yoland Antill | Dept. Haem and Medical Oncology, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, VIC 3002 | Ph: 03 9656 1111 | yoland.antill@petermac.org | MBBS, PhD |
| Rosemary Balleine | Department of Translational Oncology, C/- Department of Medical Oncology, Westmead Hospital, Westmead, NSW 2145 | Ph: 02 9845 7754 | rosemary_balleine@mail.wmi. usyd.edu.au | MBBS, PhD FRCPA |
| Jonathan Beesley | Research Officer, Queensland Institute of Medical Research, Herston Road Herston, Qld 4002, Australia | Jonathan.Beesley@qimr.edu.au | PhD | |
| Ian Bennett | Silverton Place, 101 Wickham Terrace, Brisbane, QLD 4000 | Ph: 07 3839 0006 | icben@bigpond.com.au | MBBS, FRACS, FACS |
| Michael Bogwitz | Familial Cancer Centre, The Royal Melbourne Hospital, Grattan Street Parkville, Victoria 3050, Australia | Ph: 61 3 9342 7151 | Michael.Bogwitz@mh.org.au | PhD |
| Simon Bodek | Consultant Clinical Geneticist Austin Health, Melbourne | Simon.BODEK@austin.org.au | MBBS | |
| Leon Botes | Clinical Nurse Specialist, Hereditary Cancer Centre, Prince of Wales Hospital, Barker St, Randwick, NSW 2031, Australia | Ph: 02 9382 5213 | Leon.Botes@health.nsw.gov.au | PhD |
| Meagan Brennan | NSW Breast Cancer Institute, PO Box 143, Westmead, NSW 2145 | Ph: 02 9845 6728 | meaganb@bci.org.au | FRACGP, FASBP, PhD |
| Melissa Brown | Department of Biochemistry, University of Queensland, St Lucia, QLD 4072 | Ph: 07 3365 4628 | melissa.brown@mailbox.uq. edu.au | PhD |
| Michael Buckley | Molecular and Cytogenetics Unit, Prince of Wales Hospital, Randwick, NSW 2031 | Ph: 02 9382 9164 | buckleymf@sesahs.nsw.gov.au | MBBS, PhD FRCPA |
| Jo Burke | ICON Cancer Care, 2 Melville St, Hobart, TAS 7000 | Ph: 0408 127 363 | Jo.Burke@icon.team | PhD |
| Phyllis Butow | Medical Psychology Unit, Royal Prince Alfred Hospital, Camperdown, NSW 2204 | Ph: 02 9351 2859 | phyllisb@med.usyd.edu.au | PhD |
| Liz Caldon | Replication and Genome Stability Cancer Division, Garvan Institute of Medical Research, 370 Victoria Street, Darlinghurst, NSW 2010, Australia | Ph: 02 9355 5878 | l.caldon@garvan.org.au | PhD |
| Ian Campbell | Peter MacCallum Cancer Centre, St Andrew's Place, East Melbourne, VIC 3002 | Ph: 03 9656 1803 | ian.campbell@petermac.org | PhD |
| (continued on following page) | ||||
| Name | Address | Phone | Qualifications | |
|---|---|---|---|---|
| Michelle Cao | Tasmanian Clinical Genetics Service, Tasmanian Health Service, Royal Hobart Hospital, GPO Box Hobart 7001 | Ph: 03 6166 8296 1061 | michelle.cao@ths.tas.gov.au | |
| Anannya Chakrabarti | Specialist Breast Cancer Surgery, Richmond 3121 | dranannya@gmail.com | ||
| Deepa Chauhan | School of Psychology, Brennan McCallum (Building A18), University of Sydney, 2006 | Ph: 02 9036 6129 | deepac@psych.usyd.edu.au | PhD |
| Manisha Chauhan | St Vincents Hospital Cancer Genetics Clinic, The Kinghorn Cancer Centre, Sydney, NSW | manishachauhan@ hotmail.com | GDip Gen Couns | |
| Georgia Chenevix-Trench | Queensland Institute of Medical Research, Royal Brisbane Hospital, Herston, QLD 4029 | Ph: 07 3362 0390; Fx: 07 3362 0105 | georgiaT@qimr.edu.au | PhD |
| Alice Christian | Genetics Department, Central Region Genetics Service, Wellington Hospital, New Zealand | Alice.christian@ccdhb.org.nz | BSc (Hons) FHGSA | |
| Paul Cohen | Director of Gynaecological Cancer Research, St John of God Subiaco Hospital, 12 Salvado Road, Subiaco, WA 6008, Australia | Paul.Cohen@sjog.org.au | MD, FRANZCOG, Dip Obs, BMBCh | |
| Alison Colley | Department of Clinical Genetics, Liverpool Health Service, PO Box 103, Liverpool, NSW 2170 | Ph: 02 9828 4589 | A.Colley@unsw.edu.au | PhD |
| Ashley Crook | Department of Clinical Genetics, Level 3E, Royal North Shore Hospital, St Leonards, NSW 2065 | Ph: 02 9463 1554 | akcrook@nsccahs.health.nsw. gov.au | GDip Gen Couns |
| James Cui | Epidemiology and Preventive Medicine, Monash University, Prahan, Vic 3004, Australia | Ph: 03 9903 0570 | james.cui@med.monash. edu.au | PhD |
| Eliza Courtney | Department of Clinical Genetics, Level 3E, Royal North Shore Hospital, St Leonards, NSW 2065 | ECourtney@ccia.org.au | ||
| Margaret Cummings | Department of Pathology, University of Queensland Medical School, Herston, NSW 4006 | Ph: 07 3365 1530 | M.Cummings@mailbox.uq. edu.au | MBBS, PhD FRCPA |
| Sarah-Jane Dawson | Molecular Genetics Unit, Peter MacCallum Cancer Centre, Melbourne | Ph: 03 855 97132 | sarahjane.dawson@gmail.com | MBBS, PhD |
| Anna deFazio | Dept. of Gynaecological Oncology, Westmead Institute for Cancer Research, Westmead Hospital, Westmead, NSW 2145 | Ph: 0 2 9845 7376 | anna_defazio@wmi.usyd. edu.au | PhD |
| Martin Delatycki | Director, Clinical Genetics, Austin Health, Heidelberg Repatriation Hospital, PO Box 5444, Heidelberg West, Vic 3081, Australia | Ph: 3 9496 4355 | martin.delatycki@austin.org.au | MBBS, PhD |
| Rebecca Dickson | Associate Genetic Counsellor, Level 2, Block 51, Royal North Shore Hospital, North Shore, NSW 2408 | Ph: 02 9926 6872 | RDickson@nsccahs.health.nsw. gov.au | GDip Gen Couns |
| Joanne Dixon | Central Regional Genetic Services, Wellington Hospital, Private Bag 7902, Wellington, New Zealand | Ph: 04 385 5310 | woutjwd@mash.wnhealth.co.nz | MB ChB, FRACP |
| (continued on following page) | ||||
Penetrance of TP53 Cancers Using Maximum Likelihood Analysis
| Name | Address | Phone | Qualifications | |
|---|---|---|---|---|
| Ted Edkins | Clinical Chemistry, Princess Margret Hospital for Children, Box D184, Perth, WA 6001 | Ph: 08 9340 8595 | tedkins@cygnus.uwa.edu.au | PhD |
| Stacey Edwards | Department of Biochemistry and Molecular Biology, University of Queensland, St Lucia, Qld 4072, Australia | Ph: 07 3365 4634 | stacey.edwards@uq.edu.au | PhD |
| Gelareh Farshid | Tissue Pathology, IMVS, Adelaide, SA 5000 | Ph: 08 8222 3259 | gelareh.farshid@imvs.sa.gov.au | MBBS, PhD FRCPA |
| Andrew Fellows | Molecular Diagnostic Development, Pathology Department, Peter MacCallum Cancer Centre, Melbourne, East Melbourne, Vic 3002 | Ph: 03 9656-3595 | andrew.fellowes@petermac.org | PhD |
| Georgina Fenton | South West Family Cancer Clinic, Liverpool Hospital, Liverpool, BC, NSW 1871 | Ph: 02 9828 4665 | georginafenton@hotmail.com | GDip Gen Couns |
| Michael Field | Clinical Geneticist, Royal North Shore Hospital, Level 2, Vindin House, St Leonards, NSW 2065 | Ph: 02 9926 7497 | mjfield@nsccahs.health.nsw. gov.au | MBBS, PhD |
| James Flanagan | Epigenetics Unit, Department of Surgery and Oncology, Imperial College London, London, W12 0NN, England | Ph: +44 (0) 20 759, 41804 | j.flanagan@imperial.ac.uk | PhD |
| Peter Fong | Medical Oncology Department, Regional Cancer and Blood Services, Level 1, Building 7, Auckland City Hospital, 2 Park Rd., Grafton, Auckland 1023, New Zealand | Ph: +6493074949; Extn. 23867 | pfong@adhb.govt.nz | MBBS, FRACP |
| Laura Forrest | Psychosocial Cancer Genetics Research Group, Parkville Familial Cancer Centre, 305 Grattan Street, Melbourne, Vic 3000, Australia | Ph: 3 85596191 | Laura.Forrest@petermac.org | PhD |
| Stephen Fox | Pathology Department, Level 1, Peter MacCallum Cancer Centre, St Andrew's Place, East Melbourne, Vic 3002 | Ph: 03 9656 1529 | Stephen.Fox@petermac.org | BSc, MBChB, FRCPath, FFSc, FRCPA, DPhil |
| Juliet French | School of Molecular and Microbial Sciences, University of Queensland, St Lucia, Qld 4072 | Ph: 07 3365 4634 | j.french@uq.edu.au | PhD |
| Michael Friedlander | Professor of Medicine, Department of Medical Oncology, Prince of Wales Hospital, Randwick, NSW 2031 | Ph: 02 9382 2606 | m.friedlander@unsw.edu.au | MBChB, MRCP, FRACP PhD |
| Clara Gaff | Victorian Clinical Genetics Service, Royal Melbourne Hospital, Parkville, VIC 3052 | Ph: 03 9342 7151 | clara.gaff@mh.org.au | PhD |
| Mike Gattas | Queensland Clinical Genetic Service, Royal Children's Hospital, Bramston Terrace, Herston, QLD 4020 | Ph: 07 3636 1686 | Michael_Gattas@health.qld. gov.au | MBBS, FRACP |
| Peter George | Clinical Biochemistry Unit, Canterbury Health Labs, PO Box 151, Christchurch, New Zealand | Ph: 64 3 364 0336 | pgeorge@clear.net.nz | PhD |
| Sian Greening | Illawarra Cancer Centre, Wollongong Hospital, Private Mail Bag 8808, South Coast Mail Centre, NSW 2521 | Ph: 02 4222 5576 | Sian.Greening@SESIAHS. HEALTH.NSW.GOV.AU | GDip Gen Couns |
| (continued on following page) | ||||
| Name | Address | Phone | Qualifications | |
|---|---|---|---|---|
| Marion Harris | Familial Cancer Clinic, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, VIC 3002 | Ph: 03 9656 1199 | marion.harris@optusnet. com.au | MBBS, FRACP |
| Stewart Hart | Breast and Ovarian Cancer Genetics, Monash Medical Centre, 871 Centre Road, Bentleigh East, VIC 3165 | Ph: 03 9579 6122 | centreroad@ozmail.com.au | MBBS, FRACS |
| Nick Hayward | Queensland Institute for Medical Research, Royal Brisbane Hospital, Post Office, Herston, QLD 4029 | Ph: 07 3362 0306 | nickH@qimr.edu.au | PhD |
| John Hopper | Centre for M.E.G.A. Epidemiology, University of Melbourne, Level 1, 723 Swanston Street, Carlton, VIC 3010 | Ph: 03 8344 0697 | j.hopper@gpph.unimelb.edu.au | PhD |
| Cass Hoskins | Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, 3000 | Ph: 03 8559 5322 | Cass.Hoskins@petermac.org | BSci |
| Clare Hunt | Southern Health Familial Cancer Centre, Monash Medical Centre, Special Medicine Building, 246, Clayton Rd, Clayton, Victoria 3168, Australia | Ph: 03 9594 2009 | Clare.Hunt@southernhealth. org.au | GDip Gen Couns |
| Paul James | Clinical Geneticist, Genetic Health Services, Monash Medical Centre, Clayton, Vic | Ph: 03 9594 2026 | paul.james@ghsv.org.au | MBBS, PhD |
| Mark Jenkins | Centre for M.E.G.A. Epidemiology, The University of Melbourne, 723 Swanston Street, Carlton, VIC 3053 | Ph: 03 8344 0902 | m.jenkins@unimelb.edu.au | PhD |
| Alexa Kidd | Clinical Genetics Departments, Central Regional Genetics Service, Wellington Hospital, New Zealand | Alexa.Kidd@ccdhb.org.nz | MBBS, MRCP, MRCGP | |
| Judy Kirk | Familial Cancer Service, Department of Medicine, Westmead Hospital, Westmead, NSW 2145 | Ph: 02 9845 6947 | judy.kirk@sydney.edu.au | MBBS, PhD |
| Jessica Koehler | Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, NSW 2031 | Ph: 02 9382 3415 | Jessica.koehler@SESIAHS. health.nsw.gov.au | GDip Gen Couns |
| James Kollias | Breast Endocrine and Surgical Unit Royal Adelaide Hospital, North Terrace, SA 5000 | Ph: 08 8215 0123 | jkollias@rah.sa.gov.au | MBBS, FRACS |
| Sunil Lakhani | UQ Centre for Clinical Research, Level 6, Building 71/918, University of Queensland, The Royal Brisbane and Women's Hospital, Herston 4029 | Ph: 07 3346 6052 | s.lakhani@uq.edu.au | |
| Mitchell Lawrence | Prostate Cancer Research Program, 19 Innovation Walk, Level 3, Monash University, Clayton 3800 | Ph: 03 9902 9286 | mitchell.lawrence@ monash.edu | PhD |
| Jason Lee | Epigenetics and Disease Laboratory, QIMR Berghofer Medical Research Institute, Brisbane 4006 | Ph: 07 3845 3951 | Jason.Lee@qimrberghofer. edu.au | |
| (continued on following page) | ||||
Penetrance of TP53 Cancers Using Maximum Likelihood Analysis
| Name | Address | Phone | Qualifications | |
|---|---|---|---|---|
| Shuai Li | Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Level 3, 207 Bouverie Street, Carlton, VIC 3053 | Ph: 03 9035 8224 | shuai.li@unimelb.edu.au | |
| Geoff Lindeman | Breast Cancer Laboratory, Walter and Eliza Hall Institute, PO Royal Melbourne Hospital, Parkville, VIC 3050 | Ph: 03 9342 2611 | Lindeman@wehi.edu.au | BSc, MBBS, PhD, FRACP FAHMS FAA |
| Jocelyn Lippey | Department of Surgery St Vincent's Hospital, Melbourne | jlippey@gmail.com | MBBS, PhD | |
| Lara Lipton | Medical Oncology and Clinical Haematology Unit, Western Hospital, Footscray, VIC | Lara.Lipton@mh.org.au | BSc, MBBS, PhD | |
| Liz Lobb | Medical Psychology Research Unit, Room 332, Brennan MacCallum Building (A18), The University of Sydney, Camperdown 2006 | Ph: 02 9351 4597 | lizl@psych.usyd.edu.au | PhD |
| Sherene Loi | Head of the Translational Breast Cancer, Genomics and Therapeutics Laboratory, Medical Oncologists, The Peter MacCallum Cancer Centre, Melbourne 3000 | Sherene.Loi@petermac.org | ||
| Graham Mann | Westmead Institute for Cancer Research, Westmead Millennium Institute, Westmead, NSW 2145 | Ph: 02 9845 9056 | gmann@mail.usyd.edu.au | MBBS, PhD, FRACP |
| Deborah Marsh | Kolling Institute of Medical Research, Royal North Shore Hospital, St Leonards, NSW 2065 | Ph: 02 9926 6873 | Debbie_Marsh@med.usyd. edu.au | PhD |
| Sue Anne McLachlan | Department of Oncology, St Vincent's Hospital, 41 Victoria Parade, Fitzroy, VIC 3065 | Ph: 03 9288 3155 | mclachsa@mail.svhm.org.au | MBBS, PhD |
| Bettina Meiser | Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, NSW 2031 | Ph: 02 9382 2638 | b.meiser@unsw.edu.au | PhD |
| Roger Milne | Centro Nacional de Investigaciones Oncologicas, C/Melchor Fernández Almagro, 3, E-28029 Madrid, Spain | rlm@unimelb.edu.au | PhD | |
| Sophie Nightingale | Western Health and Peter MacCallum Cancer Centre, Consultant, General, Breast and Melanoma Surgeon, St Andrews Place, East Melbourne, Victoria 3002 | Ph: 03 9318 6027 | mail@sophienightingale. com.au | MB ChB, MS, FRACS |
| Shona O'Connell | Southern Health Familial Cancer Centre, Special Medicine Building, 246 Clayton Road, Clayton, Vic 3168 | Ph: 03 9594 2009 | Shona.OConnell@ southernhealth.org.au | GDip Gen Couns |
| Sarah O'Sullivan | Genetic Services of Western, Level 3, Agnes Walsh House, 374 Bagot Road, Subiaco, WA 6008, Australia | Ph: 8 6458 1603 | Sarah.O'Sullivan@health.wa. gov.au | GDip Gen Couns |
| (continued on following page) | ||||
| Name | Address | Phone | Qualifications | |
|---|---|---|---|---|
| David Gallego Ortega | Tumour Development Group, Garvan Institute of Medical Research, The Kinghorn Cancer Centre, 370 Victoria St, Darlinghurst, NSW 2010, Australia | Ph: 61 (0)2 9355 5776 | d.gallego@garvan.org.au | PhD |
| Nick Pachter | Familial Cancer and Clinical Genetics, Royal Melbourne Hospital, Grattan Street, Parkville, VIC 3050, Australia | Ph: 03 9342 4244 | nick.pachter@mh.org.au | MB ChB |
| Jia-Min Pang | Molecular Pathology Department Peter, MacCallum Cancer Centre, Melbourne, 3000 | Ph: 03 8559 6501 | Jia-Min.Pang@petermac.org | |
| Gargi Pathak | Clinical Geneticist, Genetic Services of Western Australia, Women and Newborn Health Service, Agnes Walsh House, King Edward Memorial Hospital, 374 Bagot Road, Subiaco, WA 6008 | Ph: 08 6458 1603 | gargi.pathak@health.wa.gov.au | |
| Briony Patterson | Tas Clinical Genetics Service, Royal Hobart Hospital, GPO Box 1061, Hobart, Tasmania 7001, Australia | Ph: 03 6222 8296 | briony.patterson@dhhs.tas. gov.au | GDip Gen Couns |
| Amy Pearn | The Gene Council, Perth, Australia, PO Box 510, North Perth, WA 6906, Australia | Ph: (08) 6118 3586 | amypearn@thegenecouncil. com.au | GDip Gen Couns |
| Kelly Phillips | Department of Medical Oncology, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, VIC 3002 | Ph: 03 9656 1810 | kelly.phillips@petermac.org | MBBS, MD, FRACP |
| Ellen Pieper | Associate Genetic Counsellor, Parkville Familial Cancer Centre and Genomic Medicine, VCCC, Grattan Street, Melbourne, Vic 3000, Australia | Ph: 61 3 9342 7151 | Ellen.Pieper@mh.org.au | GDip Gen Couns |
| Susan Ramus | School of Women's and Children's Health, Adult Cancer Program, Level 2, Lowy Cancer Research, Centre, Cnr High and Botany St, UNSW | Ph: 02 9385 1720 | s.ramus@unsw.edu.au | |
| Edwina Rickard | Familial Cancer Centre, Westmead Hospital, Westmead, NSW 2145 | Ph: 02 9845 6947 | edwina_rickard@wmi.usyd. edu.au | GDip Gen Couns |
| Bridget Robinson | Oncology Service, Christchurch Hospital, Private Bag 4710, Christchurch, New Zealand | Ph: 03 364 0020 | brobinson@chmeds.ac.nz | BMedSc MD FRACP |
| Mona Saleh | Centre for Genetic Education, Prince of Wales Hospital, Randwick, NSW 2031 | Ph: 02 9926 7324 | msaleh@nsccahs.health.nsw. gov.au | PhD |
| Anita Skandarajah | Deputy Director, General Surgery, The Royal Melbourne Hospital, Consultant, Breast and Endocrine Surgeon, The Royal Melbourne Hospital and Peter Mac Callum Centre, The University of Melbourne | Ph: 03 93475785 | anita.skandarajah@mh.org.au | |
| Elizabeth Salisbury | Anatomical Pathology, Conjoint Associate Professor, UNSW, Prince of Wales Hospital, Randwick, 2031 NSW | Ph: 02 9382 9025 | E.Salisbury@westernsydney. edu.au | MBBS, FRCPA |
| (continued on following page) | ||||
Penetrance of TP53 Cancers Using Maximum Likelihood Analysis
| Name | Address | Phone | Qualifications | |
|---|---|---|---|---|
| Christobel Saunders | Director, Breast Surgery, The Royal Melbourne Hospital, The Royal Melbourne Hospital and Peter Mac Callum Centre, The University of Melbourne | Ph: 93475785 | christobel.saunders@uwa. edu.au | MB BS, FRCS, FRACS, FAAHMS |
| Jodi Saunus | Breast Pathology, University of Queensland Centre for Clinical Research, Building 71/918, The Royal Brisbane and Women's Hospital, Herston, Qld 4029 | Ph: 07 3346 6048 | j.saunus@uq.edu.au | PhD |
| Peter Savas | Peter MacCallum Cancer Centre, Department of Medical Oncology, St Andrews Place, East Melbourne, VIC 3002 | Ph: 03 8559 7134 | Peter.savas@petermac.org | MBBS, PhD,FRACP |
| Rodney Scott | Hunter Area Pathology Service, John Hunter Hospital, Locked Bag 1, Regional Mail Centre, NSW 2310 | Ph: 02 4921 3000 | Rodney.Scott@hnehealth.nsw. gov.au | PhD |
| Clare Scott | Research Department, WEHI C/ o, Royal Melbourne Hospital, Parkville, 3050 | Ph: 03 9345 2555 | scottc@wehi.edu.au | MBBS, PhD,FRACP |
| Adrienne Sexton | Familial Cancer Centre, Royal Melbourne Hospital, Grattan Street, Parkville, Vic 3050 | Ph: 9342 7151 | Adrienne.Sexton@mh.org.au | GDip Gen Couns |
| Joanne Shaw | Executive Director, Psycho-Oncology Cooperative Research Group (PoCoG), Senior Research Fellow School of Psychology, Faculty of Science, The University Of Sydney | Ph: 02 9351 3761 | joanne.shaw@sydney.edu.au | PhD |
| Andrew Shelling | Obstetrics and Gynaecology, University of Auckland, New Zealand | a.shelling@auckland.ac.nz | PhD | |
| Shweta Srinivasa | Staff Specialist in Cancer Genetics, Westmead Familial Cancer Service | Ph: 02 8890 6947 | Shweta.Srinivasa@health.nsw. gov.au | MBBS |
| Peter Simpson | The University of Queensland, Building 71/918, RBWH Campus, Herston, Qld 4029 | Ph: 07 3346 6048 | p.simpson@uq.edu.au | PhD |
| Melissa Southey | Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, VIC 3010 | Ph: 03 8344 4895 | msouthey@unimelb.edu.au | PhD |
| Amanda Spurdle | Cancer Unit, Queensland Institute of Medical Research, Herston, QLD 4029 | Ph: 07 3362 0371 | mandyS@qimr.edu.au | PhD |
| Jessica Taylor | Familial Cancer and Genetics Medicine, Royal Melbourne Hospital, 2nd Floor, Grattan Street, Parkville, Vic 3050, Australia | Ph: 03 9342 7151 | jessica.taylor@mh.org.au | GDip Gen Couns |
| Renea Taylor | Deputy Head, Cancer Program, Monash University, Rm 349, Level 3, Building 76, 19 Innovation Walk, Clayton, VIC 3800 | Ph: 03 9902 9287 | renea.taylor@monash.edu | PhD |
| Heather Thorne | Research Department, Peter MacCallum Cancer Centre, St Andrews Place, East Melbourne, VIC 3002 | Ph: 03 96561542 | heather.thorne@petermac.org | Grad Dip Clin Res |
| (continued on following page) | ||||
| Name | Address | Phone | Qualifications | |
|---|---|---|---|---|
| Alison Trainer | University of NSW, Prince of Wales Hospital, Barker Street, Randwick, NSW 2031 | Ph: 02 9382 2551 | Alison.Trainer@sesiahs.health. nsw.gov.au | MBBS, PhD |
| Kathy Tucker | Heredity Cancer Clinic, Prince of Wales Hospital, Randwick, NSW 2031 | Ph: 02 93822551 | TuckerK@sesahs.nsw.gov.au | MBBS, FRACP |
| Jane Visvader | The Walter and Eliza Hall Institute of Medical Research, Post Office Royal Melbourne Hospital, Parkville, VIC 3050 | Ph: 03 9342 2555 | visvader@wehi.edu.au | PhD |
| Logan Walker | Molecular Cancer Epidemiology Laboratory, Queensland Institute of Medical Research, P.O. Royal Brisbane Hospital, Herston, Qld 4027, Australia | Ph: 07 3362 0395 | logan.walker@qimr.edu.au | PhD |
| Rachael Williams | Family Cancer Clinic, St Vincent's Hospital, Darlinghurst, NSW 2010 | Ph: 02 8382 3395 | rwilliams@stvincents.com.au | GDip Gen Couns |
| Ingrid Winship | Department of Genetics, Royal Melbourne Hospital, Parkville, 3050 | Ph: 03 9342 7000 | Ingrid.Winship@mh.org.au | MB ChB, MD, FRACP, FACD, FAICD |
| Mary Ann Young | Genome.One, 370 Victoria St, Darlinghurst, 2010 NSW | Ph: 02 9359 8002 | m.young@garvan.org.au | MHSc |
| Milita Zaheed | Staff Specialist, Prince of Wales Hereditary Cancer Centre, Level 1, Bright Building, Barker Street, Randwick, NSW 2031 | Ph: 02 9382 5107 | Milita.Zaheed@health.nsw. gov.au |